Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. [electronic resource]
Producer: 20090323Description: 259-65 p. digitalISSN:- 1537-6605
- Amelogenesis Imperfecta -- genetics
- Cation Transport Proteins -- genetics
- Female
- Gene Duplication
- Genes, Recessive
- Humans
- Male
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- Retinal Cone Photoreceptor Cells -- pathology
- Retinal Rod Photoreceptor Cells -- pathology
- Retinitis Pigmentosa -- genetics
- Sequence Deletion
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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